LOC129930369[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 16105	NC_000001.11:g.(?_42925375)_(42959176_?)del	LOC121725020, LOC129930362 +9 more	Deletion	Encephalopathy due to GLUT1 deficiency	GPathogenic
Select item 669739	NM_006516.4(SLC2A1):c.18+303G>C	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668836	NM_006516.4(SLC2A1):c.18+254T>C	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2635446	NM_006516.4(SLC2A1):c.18+18G>T	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	SLC2A1-related disorder	GUncertain significance
Select item 1403992	NM_006516.4(SLC2A1):c.18+18G>C	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 381510	NM_006516.4(SLC2A1):c.18+14C>T	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	not specified +6 more	GLikely benign
Select item 139154	NM_006516.4(SLC2A1):c.18+12G>T	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 2034555	NM_006516.4(SLC2A1):c.18+10G>A	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 1967356	NM_006516.4(SLC2A1):c.18+10G>T	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 1140509	NM_006516.4(SLC2A1):c.18+9del	LOC129930369, SLC2A1	Deletion (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2899821	NM_006516.4(SLC2A1):c.18+8G>A	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 1585658	NM_006516.4(SLC2A1):c.18+7C>A	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 1153335	NM_006516.4(SLC2A1):c.18+7C>T	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2137826	NM_006516.4(SLC2A1):c.18+6T>C	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20